Canonical Allele Identifier: CA1820544

Gene: GCC2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108470845G>A , CM000664.2:g.108470845G>A	GRCh38
NC_000002.11:g.109087301G>A , CM000664.1:g.109087301G>A	GRCh37
NC_000002.10:g.108453733G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685519.1:c.1213G>A	ENSP00000508981.1:p.Glu405Lys
ENST00000687399.1:c.1516G>A	ENSP00000509332.1:p.Glu506Lys
ENST00000687832.1:n.1979G>A
ENST00000688612.1:n.1672G>A
ENST00000689620.1:n.1684G>A
ENST00000692013.1:n.1489G>A
ENST00000692694.1:c.1363G>A	ENSP00000509242.1:p.Glu455Lys
ENST00000692969.1:n.1599G>A
ENST00000693744.1:n.2944G>A
ENST00000309863.11:c.1516G>A MANE Select	ENSP00000307939.5:p.Glu506Lys
ENST00000309863.10:c.1516G>A	ENSP00000307939.5:p.Glu506Lys
ENST00000409896.1:c.1405G>A	ENSP00000386997.1:p.Glu469Lys
ENST00000482325.5:c.*1293G>A	ENSP00000419969.1:n.*1293G>A
ENST00000614209.1:c.751G>A	ENSP00000482844.1:p.Glu251Lys
NM_181453.3:c.1516G>A	NP_852118.1:p.Glu506Lys
NR_028063.1:n.1585G>A
XM_006712870.2:c.1525G>A	XP_006712933.1:p.Glu509Lys
XM_006712871.1:c.1213G>A	XP_006712934.1:p.Glu405Lys
XM_006712872.2:c.1525G>A	XP_006712935.1:p.Glu509Lys
XM_011512213.1:c.1180G>A	XP_011510515.1:p.Glu394Lys
XR_923067.1:n.1573G>A
XR_923068.1:n.1574G>A
XM_006712870.3:c.1525G>A	XP_006712933.1:p.Glu509Lys
XM_006712872.3:c.1525G>A	XP_006712935.1:p.Glu509Lys
XM_011512213.2:c.1180G>A	XP_011510515.1:p.Glu394Lys
XR_001739078.1:n.1591G>A
XR_001739079.1:n.1591G>A
XR_001739080.1:n.1591G>A
XR_923067.2:n.1591G>A
NM_181453.4:c.1516G>A MANE Select	NP_852118.2:p.Glu506Lys
NR_028063.2:n.1500G>A